Evidence map›Paper›PMID 40464291›Full record

ReviewAnnals of neurology2025

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies.

Brent L Fogel, Thomas Klopstock, David R Lynch, Francesca Maltecca, Mayank Verma, Berge A Minassian, Frances M Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos and 1 more

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Annals of neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Brent L FogelDepartments of Neurology and Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA.ORCID 0000-0001-9831-1576
Thomas KlopstockDepartment of Neurology with Friedrich-Baur-Institute, University Hospital of Ludwig-Maximilians-Universität München, Munich, Germany.
David R LynchDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA.ORCID 0000-0001-7168-214X
Francesca MalteccaMitochondrial Dysfunctions in Neurodegeneration Unit, Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.
Mayank VermaDivision of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX.
Berge A MinassianDivision of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX.ORCID 0000-0002-9322-0189
Frances M PlattDepartment of Pharmacology, University of Oxford, Oxford, UK.
Débora Farina GonçalvesInstitut NeuroMyoGène (INMG), Unité Physiopathologie et Génétique du Neurone et du Muscle, Université Claude Bernard Lyon 1 CNRS UMR 5261, Inserm U1315, Lyon, France.
Hélène PuccioInstitut NeuroMyoGène (INMG), Unité Physiopathologie et Génétique du Neurone et du Muscle, Université Claude Bernard Lyon 1 CNRS UMR 5261, Inserm U1315, Lyon, France.
Andreas RoosDepartment of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, Essen, Germany.
Matthis SynofzikDivision Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.ORCID 0000-0002-2280-7273

Funding

Deutsche Gesellschaft für Muskelkranke (DGM e.V.)E-Rare project GENOMIT 01GM1920BEuropean Joint Programme on Rare Diseases (EJPRD) 01GM2005European Union, project European Rare Disease Research Alliance (ERDERA) HORIZON-HLTH-2023-DISEASE-07European Union's Horizon 2020 Research and Innovation Programme EJPRDCOFUND-EJPN°825575German Federal Ministry of Education and ResearchThe German Network for Mitochondrial Disorders mitoNET,01GM1906ATREAT-ARCA BMBF,01GM2005WP20 Innovation Statistics consortium EVIDENCE-RND
6 · The paper itself

Abstract

Autosomal recessive cerebellar ataxias (ARCAs) represent over 200 clinically heterogeneous genetic conditions involving degeneration of the cerebellum and associated tracts with resultant impairment of balance and coordination. Advancements in genomic testing have enabled rapid identification of the majority of known recessive disorders, shifting research focus to the development of targeted mechanistic treatments addressing underlying physiological pathways. Molecular classification allows recognition of cellular, biochemical, and genetic targets for high-effect precision therapy development. ARCAs represent a significant global health burden, requiring establishment of a robust pathway for novel therapeutic discovery through modification of mechanisms of disease pathogenesis and subsequent clinical trial development. ANN NEUROL 2025;98:448-470.

Indexed as

Cerebellar AtaxiaGenetic TherapyTranslational Research, BiomedicalGenes, RecessiveHumans

Identifiers

PMID40464291
PMCPMC12392066

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.